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Hurler syndrome - Symptom

Alternative Names

Alpha-L-iduronate deficiency; Mucopolysaccharidosis type I; MPS I H

Symptoms:

Symptoms of Hurler syndrome most often appear between ages 3 and 8. Infants with severe Hurler syndrome appear normal at birth. Facial symptoms may become more noticeable during the first 2 years of life.

Symptoms include:

Thick, coarse facial features with low nasal bridge
Halted growth
Progressive mental retardation
Cloudy corneas
Deafness
Joint disease, including stiffness
Heart value problems
Abnormal bones in the spine
Claw hand

Signs and tests:

Urine tests are usually done first. These tests may show extra mucopolysaccharides, but they can't determine the specific form of MPS. More specific tests are done to diagnose the disease, including genetic testing for the alpha-L-iduronidase (IDUA) gene.

Other tests may include a spinal x-ray and EKG.

Low nasal bridge

Reviewed last on: 5/22/2007
Brian Kirmse, M.D., Department of Human Genetics, Mount Sinai School of Medicine, New York, NY. Review provided by VeriMed Healthcare Network.

References

Staba SL, Escolar ML, Poe M, et al. Cord-blood transplants from unrelated donors in patients with Hurler's syndrome. N Engl J Med. 2004 May 6;350(19):1960-9.

National Institute of Neurological Disorders and Stroke. Mucolipidoses Fact Sheet. Office of Communications and Public Liaison. Bethesda, MD; Publication No. 03-5115. February 13, 2007.

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